Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_024996.5:c.521A>G | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
609060.1.1 | Lebanon | Metabolic acidosis; Fatal liver failure in infancy; Cholestasis; Hepatic necrosis; Hypoplasia of the corpus callosum; Basal ganglia cysts; | Female | Yes | Yes | |
609060.1.3 | Lebanon | Female | Mother of 609060.1.1 and 609060.1.2 | |||
609060.1.4 | Lebanon | Male | Father of 609060.1.1 and 609060.1.2 |